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Autosomal Disorder

The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform

Judith Melki – 1st expert on this subject based on the ideXlab platform

  • Spinal muscular atrophy: Recent advances and future prospects
    Muscle & Nerve, 2002
    Co-Authors: Sophie Nicole, Tony Frugier, Carmen Cifuentes Diaz, Judith Melki

    Abstract:

    Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive Autosomal Disorder and represents one of the most common genetic causes of death in childhood. Mutations of the SMN1 gene are responsible for SMA. The knowledge of the genetic basis of SMA, a better understanding of SMN function, and the recent generation of SMA mouse models represent major advances in the field of SMA. These are starting points towards understanding the pathophysiology of SMA and developing therapeutic strategies for this devastating neurodegenerative disease, for which no curative treatment is known so far. © 2002 Wiley Periodicals, Inc. Muscle Nerve 26: 4–13, 2002

  • The molecular bases of spinal muscular atrophy.
    Current Opinion in Genetics & Development, 2002
    Co-Authors: Tony Frugier, Sophie Nicole, Carmen Cifuentes-diaz, Judith Melki

    Abstract:

    Abstract Spinal muscular atrophy (SMA) is a common recessive Autosomal Disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.

  • Spinal muscular atrophy1
    Seminars in Pediatric Neurology, 2002
    Co-Authors: Carmen Cifuentes-diaz, Tony Frugier, Judith Melki

    Abstract:

    Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive Autosomal Disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.

Guinto Cheick Oumar – 2nd expert on this subject based on the ideXlab platform

  • Type 2 Gaucher’s disease in a Malian family.
    African journal of health sciences, 2020
    Co-Authors: Moussa Traoré, Mariam Sylla, Jeannette Traoré, Toumani Sidibé, Guinto Cheick Oumar

    Abstract:

    Gaucher’s disease is a recessive Autosomal Disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C (14 ) techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher’s disease is rare in black population, and may be associated with phenotypes heterogeneity.

  • Type 2 Gaucher’s disease in a Malian family.
    African Journal of Health Sciences, 2005
    Co-Authors: Moussa Traoré, Mariam Sylla, Jeannette Traoré, Toumani Sidibé, Guinto Cheick Oumar

    Abstract:

    Gaucher’s disease is a recessive Autosomal Disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C14 techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher’s disease is rare in black population, and may be associated with phenotypes heterogeneity. African Journal of Health Sciences Vol.11(1&2) 2004: 67-69

Thierry Bienvenu – 3rd expert on this subject based on the ideXlab platform

  • A Novel Missense Mutation A1081P in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Identified in a Laotian Patient with Congenital Bilateral Absence of the Vas Deferens
    Journal of Tropical Pediatrics, 2004
    Co-Authors: Angele Ngukam, Marie Line Jacquemont, Isabelle Souville, Marion Viel, Cherif Beldjord, Dominique Hubert, Jean-noël Hughes, Thierry Bienvenu

    Abstract:

    : Cystic fibrosis is the most common Autosomal Disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.